NM_145064.3(STAC3):c.997-1G>T AND Bailey-Bloch congenital myopathy

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 16, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000851531.5

Allele description [Variation Report for NM_145064.3(STAC3):c.997-1G>T]

NM_145064.3(STAC3):c.997-1G>T

Gene:

STAC3:SH3 and cysteine rich domain 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.3

Genomic location:

Preferred name:

NM_145064.3(STAC3):c.997-1G>T

HGVS:

NC_000012.12:g.57243911C>A
NG_033835.1:g.12283G>T
NM_001286256.2:c.880-1G>T
NM_001286257.2:c.439-1G>T
NM_145064.3:c.997-1G>TMANE SELECT
NC_000012.11:g.57637694C>A
NM_145064.2:c.997-1G>T
NM_145064.2:c.997-G>T

Nucleotide change:

IVS11AS, G-T, -1

Links:

OMIM: 615521.0005; dbSNP: rs779483367

NCBI 1000 Genomes Browser:

rs779483367

Molecular consequence:

NM_001286256.2:c.880-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001286257.2:c.439-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_145064.3:c.997-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Bailey-Bloch congenital myopathy (CMYO13)
Synonyms:: Native American myopathy; Congenital myopathy cleft palate and malignant hyperthermia; STAC3 disorder; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009722; MedGen: C1850625; Orphanet: 168572; OMIM: 255995

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000994603	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 30168660, 31219695
SCV001335235	OMIM	no assertion criteria provided	Pathogenic (Jul 16, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000994603

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001335235

OMIM

no assertion criteria provided

Pathogenic
(Jul 16, 2024)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

STAC3 Disorder..

Webb BD, Manoli I, Jabs EW.

2019 Jun 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 31219695

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, et al.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PubMed [citation]

PMID:: 30168660

Details of each submission

From GeneReviews, SCV000994603.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From OMIM, SCV001335235.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the splice site variant (c.997-G-T, NM_145064.2) in the STAC3 gene that was found in compound heterozygous state in a patient (PN5) of Afro-Caribbean descent with congenital myopathy-13 (CMYO13; 255995) by Zaharieva et al. (2018), see 615521.0001.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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